ENU-induced C to T transition at base pair 100,221,903 (v38) on chromosome 13, or base pair 32,869 in the GenBank genomic region NC_000079 for the Naip5 gene. The mutation corresponds to residue 3,037 in the mRNA sequence NM_010870 within exon 9 of 14 total exons. The mutation results in substitution of glutamine (Q) 942 for a premature stop codon (Q942*) in the protein. (J:234248)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count